Parental Attitudes Toward Clinical Genomic Sequencing in Children With Critical Cardiac Disease

Abstract

Through improving diagnostics and prognostics genomic sequencing promises to significantly impact clinical decisions for children with critical cardiac disease. Little is known about how families of children with critical cardiac disease perceive the impact of genomic sequencing on clinical care choices.DESIGN: Qualitative interview study. SETTING:A high-volume, tertiary pediatric heart center. SUBJECTS:Families of children with critical cardiac disease. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS:Thematic analysis of interview response content. Thirty-five families were interviewed. Three themes emerged: 1) benefits versus challenges of having genomic sequencing results, and 2) fears of clinical applications of genomic sequencing, and 3) nonclinical fears related to genomic sequencing. Participants struggled with perceived uses of genomic sequencingderived knowledge. They described comfort in foreknowledge of their child's likely disease course but articulated significant apprehension around participating in care decisions with limited knowledge of genomic sequencing, genomic sequencing uses to inform clinical resource rationing decisions, and genomic sequencing uses by third parties impacting financial pressures families experience caring for a child with critical cardiac disease. CONCLUSIONS:Families' perceptions of genomic sequencing uses in critical cardiac disease appear to strain their overall trust in the health system. Erosion of trust is concerning because the potential of genomic sequencing in critical cardiac disease will be unrealized if families are unwilling to undergo genomic sequencing, let alone to participate in the ongoing research needed to link genomic sequencing variants to clinical outcomes. Our findings may have implications for genomic sequencing use in children with other critical, high-acuity diseases.

Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions

“…We also cannot report whether the clinical management recommendations based on MolDx were implemented or whether patients eligible for clinical trials were actually enrolled. Additionally, as genetic testing has proliferated in the clinical setting, concerns have been raised regarding the emotional impact on families awaiting results, confidentiality of results, and results that include secondary findings or variants of unknown significance [28]. Other fears such as impact on insurability are also common among families [28].…”

“…Additionally, as genetic testing has proliferated in the clinical setting, concerns have been raised regarding the emotional impact on families awaiting results, confidentiality of results, and results that include secondary findings or variants of unknown significance [28]. Other fears such as impact on insurability are also common among families [28]. As with any intervention in medicine, these concerns and risks must be weighed against potential benefit and, fortunately, many may be mitigated with genetic counseling and other best practices both prior to testing and after receiving results of testing [29,30].…”

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

“…179 For non-structural cardiac disease, the need for specialized training of genetic counsellors in critical care settings was recognized to be important for clinical genetic testing decisions that are made under time constraints and to support caregivers of affected children. 166…”

“…188 The intensive care environment is stressful and impacts caregivers' decision-making. 16,18,28,39,44,119,124,144,166 Caregivers in the NICU experience greater feelings of overwhelm compared to caregivers with older, stable children considering GWS. 44 Additionally, caregivers with critically ill infants in the NICU are more likely to opt out of receiving incidental findings for themselves from rapid GWS.…”

“…44 It was identified by many authors that genetic counsellors can be helpful with respect to the challenges caregivers experience brought on by the genetic testing process in ICUs. 16,18,21,28,39,44,119,124,144,166 There were differences in the genetic counselling support needed for families and healthcare providers in NICUs as compared to PICUs.…”